Hb Tak beta147 (+AC); abnormal C-terminal sequence:
(147)THR-Lys-Leu-Ala-Phe-Leu-Leu-
Ser-Asn-Phe-(157)Tyr-COOH
         
HEMATOLOGY Nearly normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb G at alkaline pH; at acidic pH Hb X moves as Hb S
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed frameshift at terminating codon beta147 (+AC)
FUNCTION STUDIES Increased oxygen affinity; decreased Bohr effect and cooperativity
STABILITY Heat stable but mildly unstable with the isopropanol test
OCCURRENCE Found in a few Thai families
OTHER INFORMATION Quantity in the heterozygote 35-40%; found in association with beta-thal
       
REFERENCES
1. Flatz, G., Kinderlerer, J.L., Kilmartin, J.V., and Lehmann, H.: The Lancet, i:732, 1971.
2. Imai, K. and Lehmann, H.: Biochim. Biophys. Acta, 412:288, 1975.
3. Lehmann, H., Casey, R., Lang, A., Stathopoulou, R., Imai, K., Tuchinda, S., Vinai, P., and Flatz, G.: Br. J. Haematol., 31:119 (Suppl.), 1975.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.